MCTD
MCID: MXD005
MIFTS: 57

Mixed Connective Tissue Disease (MCTD)

Categories: Bone diseases, Immune diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Mixed Connective Tissue Disease

MalaCards integrated aliases for Mixed Connective Tissue Disease:

Name: Mixed Connective Tissue Disease 12 73 20 58 36 54 44 15 17 70
Sharp Syndrome 20 58
Mctd 20 58
Connective Tissue Disease Overlap Syndrome 12
Mixed Collagen Vascular Disease 12

Characteristics:

Orphanet epidemiological data:

58
mixed connective tissue disease
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Japan); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Rare respiratory diseases
Rare systemic and rhumatological diseases


Summaries for Mixed Connective Tissue Disease

KEGG : 36 Mixed connective tissue disease (MCTD) is a rare autoimmune disease characterized by a combination of clinical features of systemic lupus erythematosus, systemic sclerosis, and polymyositis with elevated antibodies to U1 small nuclear ribonucleoprotein (U1-RNP). The most common clinical manifestations of this disease are Raynaud's phenomenon, arthralgias, swollen joints, esophageal dysfunction, muscle weakness and fingers sausage-like appearance. The disease can be serious with development of pulmonary, kidney, cardiovascular, gastrointestinal, and central nervous system manifestations. The worst prognosis and high mortality are associated with the presence of pulmonary disease. Therapy should be individualised for each patient to address the specific organs involved and the severity of underlying disease activity. Inflammatory manifestations usually respond to steroid treatment, whereas clinical sclerodermatous manifestations such as sclerodactyly, and pulmonary interstitial disease more often require cytotoxic immunosuppressive treatment.

MalaCards based summary : Mixed Connective Tissue Disease, also known as sharp syndrome, is related to systemic scleroderma and myositis. An important gene associated with Mixed Connective Tissue Disease is SNRNP70 (Small Nuclear Ribonucleoprotein U1 Subunit 70), and among its related pathways/superpathways are mRNA Splicing - Major Pathway and Allograft rejection. The drugs Cilostazol and Vasodilator Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, endothelial and t cells, and related phenotypes are arthritis and gastroesophageal reflux

Disease Ontology : 12 A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.

GARD : 20 Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis ; heart, lung and skin abnormalities; kidney disease ; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. Treatment may include medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immune-suppressing drugs to help manage symptoms.

Wikipedia : 73 Mixed connective tissue disease commonly abbreviated as MCTD, is an autoimmune disease characterized by... more...

Related Diseases for Mixed Connective Tissue Disease

Diseases related to Mixed Connective Tissue Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 697)
# Related Disease Score Top Affiliating Genes
1 systemic scleroderma 31.5 TNF SNRNP70 IL6 IL10 IFNG
2 myositis 31.5 TNF IL6 IFNG HLA-DRB1
3 interstitial lung disease 31.4 TNF IL6 IL10 IFNG
4 pericarditis 31.2 TNF IL6 IFNG
5 aseptic meningitis 31.1 TNF IL10 IFNG
6 myocarditis 31.0 TNF IL6 IL10 IFNG
7 meningitis 31.0 TNF IL6 IL10 IFNG
8 childhood type dermatomyositis 31.0 TNF SNRNP70 IL6
9 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.9 TNFSF13B IL10 IFNG
10 exanthem 30.9 TNF IL6 IL10 IFNG
11 thrombotic thrombocytopenic purpura 30.8 HLA-DRB1 APOH ADAMTS13
12 esophagitis 30.8 TNF IL6 IL10
13 telangiectasis 30.8 SNRNP70 BMPR2 ACVRL1
14 vasculitis 30.8 TNFSF13B TNF IL6 HSPD1 APOH
15 transverse myelitis 30.8 TNF IL6 IL10 APOH
16 myelitis 30.8 TNF IL6 IL10 APOH
17 sjogren syndrome 30.8 TNFSF13B RNPC3 IL10 APOH
18 thyroiditis 30.7 TNF IL6 IL10 IFNG HLA-DRB1
19 spondyloarthropathy 1 30.7 TNF IL6 HSPD1
20 portal hypertension 30.7 TNF BMPR2 ADAMTS13
21 fasciitis 30.7 TNF IL6 IFNG
22 keratoconjunctivitis 30.7 TNF IL6 IFNG
23 antiphospholipid syndrome 30.7 TNF APOH ADAMTS13
24 tenosynovitis 30.7 TNF IL6 HSPD1
25 lymphadenitis 30.7 TNF IL10 IFNG
26 pneumonia 30.7 TNF IL6 IL10 IFNG
27 ileus 30.6 TNF IL6 IL10
28 lupus erythematosus 30.6 TNF SNRPD3 SNRNP70 IL10 IFNG HLA-DRB1
29 spondylitis 30.6 TNF IL6 IL10 IFNG
30 spondyloarthropathy 30.6 TNF IL6 IL10 IFNG
31 juvenile rheumatoid arthritis 30.6 TNF IL6 IL10 IFNG HLA-DRB1
32 neuromyelitis optica 30.6 TNFSF13B IL6 HLA-DRB1
33 disseminated intravascular coagulation 30.6 TNF IL6 IL10 ADAMTS13
34 acute transverse myelitis 30.6 IL6 IL10
35 nocardiosis 30.5 TNF IFNG HSPD1
36 discoid lupus erythematosus 30.5 IL10 HLA-DRB1 APOH
37 iritis 30.5 TNF IL6 IL10
38 iridocyclitis 30.5 TNF IL6 IL10
39 myasthenia gravis 30.5 TNFSF13B TNF IL10 IFNG
40 herpes zoster 30.4 TNF IL10 IFNG HLA-DRB1
41 cutaneous lupus erythematosus 30.4 TNFSF13B TNF IL6 IL10 IFNG
42 meningoencephalitis 30.4 TNF IL6 IL10
43 polyarteritis nodosa 30.4 IL6 HLA-DRB1 APOH
44 sclerosing cholangitis 30.4 TNF IL6 IL10 HLA-DRB1
45 cholangitis 30.4 TNF IL6 IL10 HLA-DRB1
46 b-cell growth factor 30.4 IL6 IFNG
47 familial mediterranean fever 30.3 TNF IL6 IL10
48 chronic inflammatory demyelinating polyradiculoneuropathy 30.3 IL10 IFNG HLA-DRB1
49 localized scleroderma 30.3 TNFSF13B TNF IL6
50 erythema multiforme 30.3 TNF IL6 IFNG

Graphical network of the top 20 diseases related to Mixed Connective Tissue Disease:



Diseases related to Mixed Connective Tissue Disease

Symptoms & Phenotypes for Mixed Connective Tissue Disease

Human phenotypes related to Mixed Connective Tissue Disease:

58 31 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001369
2 gastroesophageal reflux 58 31 hallmark (90%) Very frequent (99-80%) HP:0002020
3 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
4 autoimmunity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002960
5 pulmonary fibrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002206
6 dyspnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002094
7 myalgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003326
8 chest pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0100749
9 skin rash 58 31 hallmark (90%) Very frequent (99-80%) HP:0000988
10 elevated erythrocyte sedimentation rate 58 31 hallmark (90%) Very frequent (99-80%) HP:0003565
11 gastritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005263
12 scleroderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0100324
13 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
14 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
15 joint swelling 58 31 frequent (33%) Frequent (79-30%) HP:0001386
16 psychosis 58 31 frequent (33%) Frequent (79-30%) HP:0000709
17 keratoconjunctivitis sicca 58 31 frequent (33%) Frequent (79-30%) HP:0001097
18 myositis 58 31 frequent (33%) Frequent (79-30%) HP:0100614
19 pleuritis 58 31 frequent (33%) Frequent (79-30%) HP:0002102
20 xerostomia 58 31 frequent (33%) Frequent (79-30%) HP:0000217
21 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
22 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
23 avascular necrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010885
24 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
25 nephropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000112
26 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
27 hemolytic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001878
28 purpura 58 31 occasional (7.5%) Occasional (29-5%) HP:0000979
29 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002239
30 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
31 pericarditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001701
32 myocarditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012819
33 meningitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001287
34 prolonged bleeding time 58 31 occasional (7.5%) Occasional (29-5%) HP:0003010
35 mediastinal lymphadenopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100721
36 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
37 osteolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002797
38 leukopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001882
39 seizure 31 occasional (7.5%) HP:0001250
40 seizures 58 Occasional (29-5%)
41 lymphadenopathy 58 Occasional (29-5%)
42 interstitial pulmonary abnormality 58 Occasional (29-5%)

GenomeRNAi Phenotypes related to Mixed Connective Tissue Disease according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.6 BMPR2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-113 9.6 BMPR2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-128 9.6 HLA-DRB1 IL10
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-132 9.6 IL10
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.6 IL10
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.6 IL10
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.6 BMPR2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-201 9.6 SNRPA
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 9.6 BMPR2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-25 9.6 IL10
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.6 IL10 SNRPA
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 9.6 BMPR2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.6 HLA-DRB1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-80 9.6 HLA-DRB1 IL10 SNRPA
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.6 SNRPA

MGI Mouse Phenotypes related to Mixed Connective Tissue Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.61 ACVRL1 BMPR2 HNRNPC HSPD1 IFNG IL10
2 respiratory system MP:0005388 9.23 ACVRL1 BMPR2 HSPD1 IFNG IL10 IL6

Drugs & Therapeutics for Mixed Connective Tissue Disease

Drugs for Mixed Connective Tissue Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
2 Vasodilator Agents Phase 4
3 Neuroprotective Agents Phase 4
4 Respiratory System Agents Phase 4
5 Phosphodiesterase 3 Inhibitors Phase 4
6 Fibrinolytic Agents Phase 4
7 Anti-Asthmatic Agents Phase 4
8 Bronchodilator Agents Phase 4
9 Phosphodiesterase Inhibitors Phase 4
10 Protective Agents Phase 4
11 Platelet Aggregation Inhibitors Phase 4
12
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
13
rituximab Approved Phase 2, Phase 3 174722-31-7 10201696
14 Antineoplastic Agents, Immunological Phase 2, Phase 3
15 Immunosuppressive Agents Phase 2, Phase 3
16 Antirheumatic Agents Phase 2, Phase 3
17 Immunologic Factors Phase 2, Phase 3
18 Alkylating Agents Phase 2, Phase 3
19 Vaccines
20 Autoantibodies

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Pletal (Cilostazol) for the Treatment of Juvenile Primary and Secondary Raynaud's Phenomenon Completed NCT00048776 Phase 4 Pletal
2 A Randomized, Double Blind Controlled Trial Comparing Rituximab Against Intravenous Cyclophosphamide in Connective Tissue Disease Associated Interstitial Lung Disease Terminated NCT01862926 Phase 2, Phase 3 Rituximab;Cyclophosphamide
3 A Phase I-II Open- Label Study to Assess the Safety, Tolerability, and Preliminary Efficacy of a Single Intravenous Dose of Autologous Adipose Stem Cell (Adult Human) to Subjects With Refractory Rheumatoid Arthritis, Relapsing Systemic Lupus Erythematosus or Sharp's Syndrome Terminated NCT02741362 Phase 1
4 Potential of Mesenchymal Stem Cell Enriched Adipose Tissue Grafting for Contour Deformities of Face Unknown status NCT02494752
5 The CARRA Registry Completed NCT01697254
6 Evaluation of Yellow Fever Vaccine in Patients With Rheumatic Diseases Under Low Immunosuppression Level and Residing in a Risk Area Completed NCT03430388
7 Connective Tissue Disease Leg Ulcer Etiology Study Completed NCT00522002
8 Immune Response to Small Nuclear Ribonucleoprotein Autoantigens Recruiting NCT00582881
9 Rheumatology Patient Registry and Biorepository Recruiting NCT04402086
10 New Orleans Pulmonary Hypertension Biobank Recruiting NCT03269630
11 Atherosclerosis in Juvenile Mixed Connective Tissue Disease Active, not recruiting NCT03581162

Search NIH Clinical Center for Mixed Connective Tissue Disease

Cochrane evidence based reviews: mixed connective tissue disease

Genetic Tests for Mixed Connective Tissue Disease

Anatomical Context for Mixed Connective Tissue Disease

MalaCards organs/tissues related to Mixed Connective Tissue Disease:

40
Skin, Endothelial, T Cells, Thyroid, Lung, Liver, Monocytes

Publications for Mixed Connective Tissue Disease

Articles related to Mixed Connective Tissue Disease:

(show top 50) (show all 2004)
# Title Authors PMID Year
1
Nonspecific interstitial pneumonia associated with collagen vascular disease: analysis of CT features to distinguish the various types. 61 54
19443969 2009
2
Multiple specificities of autoantibodies against hnRNP A/B proteins in systemic rheumatic diseases and hnRNP L as an associated novel autoantigen. 61 54
17453722 2007
3
A murine model of mixed connective tissue disease induced with U1 small nuclear RNP autoantigen. 61 54
16453294 2006
4
Lack of circulating autoantibodies to bone morphogenetic protein receptor-II or activin receptor-like kinase 1 in mixed connective tissue disease patients with pulmonary arterial hypertension. 54 61
15509626 2005
5
Absence of autoantibodies against correctly folded recombinant fibrillin-1 protein in systemic sclerosis patients. 54 61
16277674 2005
6
Autoantibodies specific for apoptotic U1-70K are superior serological markers for mixed connective tissue disease. 54 61
15743477 2005
7
Mixed connective tissue disease associated with antineutrophil cytoplasmic antibodies against proteinase-3 and systemic atherosclerosis: a case report. 61 54
15459817 2004
8
[Comparison between line immunoassay (LIA) and enzyme-linked immunosorbent assay (ELISA) for the determination of antibodies to extractable nuclear antigenes (ENA) with reference to other laboratory results and clinical features]. 61 54
12399881 2002
9
Structural analysis of TCRalpha and beta chains from human T-Cell clones specific for small nuclear ribonucleoprotein polypeptides Sm-D, Sm-B and U1-70 kDa: TCR complementarity determining region 3 usage appears highly conserved. 61 54
11439168 2001
10
Lack of association between the Met196Arg polymorphism in the TNFR2 gene and autoimmune diseases accompanied by vasculitis including SLE in Japanese. 61 54
11169260 2001
11
Autoantibodies against chaperonin CCT in human sera with rheumatic autoimmune diseases: comparison with antibodies against other Hsp60 family proteins. 61 54
11048656 2000
12
Characterization of recombinant human autoantibody fragments directed toward the autoantigenic U1-70K protein. 54 61
11069087 2000
13
Fine specificity of anti-fibrillin-1 autoantibodies in primary pulmonary hypertension syndrome. 61 54
10849372 2000
14
Kinetics of anti-fibrillin-1 autoantibodies in MCTD and CREST syndrome. 61 54
10756089 2000
15
[Autoantibodies to the heterogeneous nuclear ribonucleoproteins and the autoimmune diseases]. 54 61
12567457 1999
16
Long-term outcome in mixed connective tissue disease: longitudinal clinical and serologic findings. 61 54
10323445 1999
17
[Mixed connective tissue disease--etiology, pathogenesis, clinical significance, treatment]. 54 61
10645148 1999
18
Respiratory complications in mixed connective tissue disease. 54 61
9917963 1998
19
Most anticardiolipin antibodies in mixed connective tissue disease are beta2-glycoprotein independent. 61 54
9458233 1998
20
D-penicillamine-induced pemphigus foliaceus with autoantibodies to desmoglein-1 in a patient with mixed connective tissue disease. 54 61
9216536 1997
21
Autoantibodies to the A/B proteins of the heterogeneous nuclear ribonucleoprotein complex: novel tools for the diagnosis of rheumatic diseases. 54 61
8957102 1996
22
Identification of autoantibodies to the I protein of the heterogeneous nuclear ribonucleoprotein complex in patients with systemic sclerosis. 61 54
8843857 1996
23
Clonotype analysis of peripheral blood T cells and autoantigen-reactive T cells from patients with mixed connective tissue disease. 54 61
7930595 1994
24
The association of myasthenia gravis and connective tissue diseases--the role of Sjøgren's syndrome. 54 61
8144128 1994
25
Immunogenetics of inflammatory myopathies. 54 61
8156144 1993
26
Mixed connective tissue disease presenting myasthenia gravis. 54 61
8312661 1993
27
Mixed connective tissue disease and Sjögren's syndrome, accompanied by HTLV-I infection. 61 54
8101109 1993
28
Anticardiolipin antibodies are associated with pulmonary hypertension in patients with mixed connective tissue disease or systemic lupus erythematosus. 54 61
8481653 1993
29
Spatial localization of distinct rheumatic disease-associated epitopes and the RNA "cap" of the U1 snRNP particle. 61 54
1374734 1992
30
In-vivo epidermal nuclear reactions: a selective process. 54 61
1873202 1991
31
HLA in systemic scleroderma (PSS) and familial scleroderma. 54 61
2050902 1991
32
Myeloid calcium binding proteins: expression in the differentiated HL-60 cells and detection in sera of patients with connective tissue diseases. 61 54
2292594 1990
33
[Clinical usefulness of determining the antibodies to soluble nuclear antigens in various collagen diseases]. 61 54
2125351 1990
34
Class II ribonuclease H comigrates with, but is distinct from, the third largest subunit of calf thymus RNA polymerase I. 61 54
1698096 1990
35
Detection of autoantibodies to Sm antigen in systemic lupus erythematosus by immunodiffusion, ELISA and immunoblotting: variability of incidence related to assays and ethnic origin of patients. 54 61
2146135 1990
36
[A case of mixed connective tissue disease developed into overlap syndrome of progressive systemic sclerosis, systemic lupus erythematosus, polymyositis and Sjögren's syndrome]. 54 61
2222196 1990
37
Collapsing glomerulopathy in a patient with mixed connective tissue disease. 61
33052525 2021
38
Pulmonary hypertension in connective tissue diseases, new evidence and challenges. 61
33216992 2021
39
[Atypical arthritis of the hands : Collagenosis-part 2]. 61
33792744 2021
40
Variety of endosomal TLRs and Interferons (IFN-α, IFN-β, IFN-γ) expression profiles in patients with SLE, SSc and MCTD. 61
33336388 2021
41
Prevalence of anti-dense fine speckled 70 antibodies in healthy individuals and patients with antinuclear antibody-associated autoimmune rheumatic diseases in Japan. 61
33655922 2021
42
Development of Sweet's syndrome and the immunological finding of systemic lupus erythematosus during the course of mixed connective tissue disease. 61
33040354 2021
43
Capillaroscopy as a diagnostic tool in the diagnosis of mixed connective tissue disease (MCTD): a case report. 61
33736700 2021
44
Urinary abnormality in mixed connective tissue disease predicts development of other connective tissue diseases and decrease in renal function. 61
33706652 2021
45
Case 291. 61
33617418 2021
46
Fulminant myocarditis in a COVID-19 positive patient treated with mechanical circulatory support - a case report. 61
33594347 2021
47
99mTc-HSA-DTPA Scintigraphy of Protein-Losing Gastroenteropathy Associated with Mixed Connective Tissue Disease Before and After Immunosuppressive Therapy. 61
33643489 2021
48
Clinical Presentation and Disease Course of 37 Consecutive Cases of Progressive Multifocal Leukoencephalopathy (PML) at a German Tertiary-Care Hospital: A Retrospective Observational Study. 61
33613439 2021
49
2019 Diagnostic criteria for mixed connective tissue disease (MCTD): From the Japan research committee of the ministry of health, labor, and welfare for systemic autoimmune diseases. 61
31903831 2021
50
Association study between immune-related miRNAs and mixed connective tissue disease. 61
33430976 2021

Variations for Mixed Connective Tissue Disease

Expression for Mixed Connective Tissue Disease

Search GEO for disease gene expression data for Mixed Connective Tissue Disease.

Pathways for Mixed Connective Tissue Disease

Pathways related to Mixed Connective Tissue Disease according to GeneCards Suite gene sharing:

(show all 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.07 SNRPN SNRPD3 SNRPA SNRNP70 RNPC3 LSM2
2
Show member pathways
12.65 TNFSF13B TNF IL6 IL10 IFNG HSPD1
3
Show member pathways
12.5 TNF IL6 IL10 IFNG HLA-DRB1
4
Show member pathways
12.19 TNF IL10 IFNG HLA-DRB1
5 12.09 TNF IL6 IL10 HSPD1
6 11.89 TNFSF13B TNF IL6 IFNG
7 11.86 TNF IL6 IL10 IFNG
8 11.79 TNF IL6 IL10 IFNG
9 11.71 TNF IL10 IFNG
10 11.69 TNF IL6 IL10 IFNG HSPD1 HLA-DRB1
11 11.68 TNF IL6 IL10
12
Show member pathways
11.64 TNF IL6 IL10 IFNG
13
Show member pathways
11.6 TNF IL6 IFNG
14 11.6 TNF IL6 IL10 IFNG
15 11.54 TNF IL6 HSPD1
16 11.52 TNFSF13B TNF IL6 IL10
17 11.52 TNFSF13B TNF IL6 IFNG HLA-DRB1
18 11.51 SNRPD3 RNPC3 LSM2
19 11.48 TNF IL6 IFNG
20 11.46 TNF IL6 IL10
21 11.41 TNF IL6 IFNG
22 11.32 TNF IL6 IL10 IFNG
23
Show member pathways
11.28 TNF IL10 IFNG
24 11.26 TNF IL6 IL10
25 11.21 TNF IL6 IFNG
26 11.13 TNF IL6 IL10 IFNG
27 10.48 TNF IL6 IL10 IFNG HLA-DRB1

GO Terms for Mixed Connective Tissue Disease

Cellular components related to Mixed Connective Tissue Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.9 TNFSF13B TNF SERPINH1 IL6 IL10 IFNG
2 cell surface GO:0009986 9.8 TNF HSPD1 HLA-DRB1 BMPR2 APOH ADAMTS13
3 catalytic step 2 spliceosome GO:0071013 9.62 SNRPN SNRPD3 LSM2 HNRNPC
4 U4/U6 x U5 tri-snRNP complex GO:0046540 9.54 SNRPN SNRPD3 LSM2
5 U1 snRNP GO:0005685 9.26 SNRPN SNRPD3 SNRPA SNRNP70
6 spliceosomal complex GO:0005681 9.23 SNRPN SNRPD3 SNRPA SNRNP70 RNPC3 LSM2

Biological processes related to Mixed Connective Tissue Disease according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.93 TNFSF13B TNF IL6 IL10 IFNG HLA-DRB1
2 cellular response to lipopolysaccharide GO:0071222 9.87 TNF IL6 IL10 ADAMTS13
3 regulation of insulin secretion GO:0050796 9.82 TNF IL6 IFNG
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.82 TNF IL6 IFNG
5 positive regulation of endothelial cell proliferation GO:0001938 9.81 IL10 BMPR2 ACVRL1
6 mRNA processing GO:0006397 9.8 SNRPD3 SNRPA SNRNP70 RNPC3 LSM2 HNRNPC
7 humoral immune response GO:0006959 9.79 TNF IL6 IFNG
8 positive regulation of interleukin-1 beta production GO:0032731 9.78 TNF IL6 IFNG
9 positive regulation of cytokine production GO:0001819 9.77 TNF IL10 IFNG
10 response to activity GO:0014823 9.75 IL6 IL10 HSPD1
11 interleukin-12-mediated signaling pathway GO:0035722 9.73 IL10 IFNG HNRNPDL
12 negative regulation of endothelial cell proliferation GO:0001937 9.7 TNF APOH ACVRL1
13 positive regulation of chemokine production GO:0032722 9.69 TNF IL6 IFNG
14 positive regulation of interleukin-6 production GO:0032755 9.67 TNF IL6 IFNG HSPD1
15 positive regulation of neuroinflammatory response GO:0150078 9.66 TNF IL6
16 lymphangiogenesis GO:0001946 9.66 BMPR2 ACVRL1
17 negative regulation of amyloid-beta clearance GO:1900222 9.65 TNF IFNG
18 positive regulation of MHC class II biosynthetic process GO:0045348 9.65 IL10 IFNG
19 positive regulation of JAK-STAT cascade GO:0046427 9.65 TNF IL6 IL10
20 artery development GO:0060840 9.63 BMPR2 ACVRL1
21 negative regulation of lipid storage GO:0010888 9.63 TNF IL6
22 RNA splicing GO:0008380 9.63 SNRPN SNRPD3 SNRPA RNPC3 LSM2 HNRNPC
23 retina vasculature development in camera-type eye GO:0061298 9.62 BMPR2 ACVRL1
24 vascular endothelial growth factor production GO:0010573 9.62 TNF IL6
25 lymphatic endothelial cell differentiation GO:0060836 9.59 BMPR2 ACVRL1
26 negative regulation of cytokine production involved in immune response GO:0002719 9.58 TNF IL10
27 response to glucocorticoid GO:0051384 9.56 TNF IL6 IL10 HSPD1
28 venous blood vessel development GO:0060841 9.55 BMPR2 ACVRL1
29 positive regulation of T cell mediated immune response to tumor cell GO:0002842 9.54 HSPD1 HLA-DRB1
30 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.49 TNF IFNG
31 positive regulation of vitamin D biosynthetic process GO:0060557 9.43 TNF IFNG
32 positive regulation of nitrogen compound metabolic process GO:0051173 9.4 TNF IFNG
33 mRNA splicing, via spliceosome GO:0000398 9.17 SNRPN SNRPD3 SNRPA SNRNP70 RNPC3 LSM2
34 endothelial cell apoptotic process GO:0072577 9.13 TNF IL10 BMPR2

Molecular functions related to Mixed Connective Tissue Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.16 TNFSF13B TNF SNRPN SNRPD3 SNRPA SNRNP70
2 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.4 BMPR2 ACVRL1
3 transforming growth factor beta-activated receptor activity GO:0005024 9.37 BMPR2 ACVRL1
4 cytokine activity GO:0005125 9.35 TNFSF13B TNF IL6 IL10 IFNG
5 U1 snRNA binding GO:0030619 9.32 SNRPA SNRNP70
6 RNA binding GO:0003723 9.32 SNRPN SNRPD3 SNRPA SNRNP70 SERPINH1 RNPC3
7 BMP receptor activity GO:0098821 9.26 BMPR2 ACVRL1

Sources for Mixed Connective Tissue Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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